Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, |
RCV002262119 | SCV002542462 | uncertain significance | Autoinflammatory syndrome | 2016-12-12 | criteria provided, single submitter | clinical testing | |
Genetics and Molecular Pathology, |
RCV002466751 | SCV002761913 | uncertain significance | Familial cold autoinflammatory syndrome 2 | 2022-01-17 | criteria provided, single submitter | clinical testing | VUS (PM2) |